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Sodium/potassium/calcium exchanger 4 also known as solute carrier family 24 member 4 is a protein that in humans is encoded by the SLC24A4 gene .[1]
Clinical effects
Mutations in SLC24A4 cause amelogenesis imperfecta .[2] [3] [4]
References
↑ "Entrez Gene: SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4" .
↑ Parry DA, Poulter JA, Logan CV, Brookes SJ, Jafri H, Ferguson CH, et al. (February 2013). "Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta" . American Journal of Human Genetics . 92 (2): 307–12. doi :10.1016/j.ajhg.2013.01.003 . PMC 3567274 . PMID 23375655 .
↑ Wang S, Choi M, Richardson AS, Reid BM, Seymen F, Yildirim M, et al. (July 2014). "STIM1 and SLC24A4 Are Critical for Enamel Maturation" . Journal of Dental Research . 93 (7 Suppl): 94S–100S. doi :10.1177/0022034514527971 . PMC 4107542 . PMID 24621671 .
↑ Herzog CR, Reid BM, Seymen F, Koruyucu M, Tuna EB, Simmer JP, Hu JC (February 2015). "Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation" . Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology . 119 (2): e77–81. doi :10.1016/j.oooo.2014.09.003 . PMC 4291293 . PMID 25442250 .